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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCAF4

Variant:p.G566*

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SCAF4

NM_020706.2:p.G566*

hg38:chr21:31691849 C>A

Associated Papers

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Schmid CM et al.

European Journal of Human Genetics : Ejhg, 2025

39668183 (PubMed )

Supplement: 41431_2024_1760_MOESM2_ESM.xlsx › Tabelle1

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."